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Article

Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature.

Orphanet journal of rare diseases - 14 Nov 2019

Shangguan Huakun, Su Chang, Ouyang Qian, Cao Bingyan, Wang Jian, Gong Chunxiu, Chen Ruimin

Abstract excerpt

OBJECTIVE: This study describes 5 novel variants of 7 KMT2D/KDM6A gene and summarizes the clinical manifestations and the mutational spectrum of 47 Chinese Kabuki syndrome (KS) patients. METHODS: Blood samples were collected for whole-exome sequencing (WES) for 7 patients and their parents if available. Phenotypic and genotypic spectra of 40 previously published unrelated Chinese KS patients were summarized....

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Identifiers

PMID: 31727177
DOI: 10.1186/s13023-019-1219-x
PMCID: PMC6854618

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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